Making a difference in how Down syndrome and prenatal testing are viewed

By Leticia Velasquez

Editor’s note. October is Down syndrome Awareness Month. We are posting stories, just like this one, all month.

In an age when we value informed consent and patient centered care, it’s a travesty that often the worst informed patient is the mother of an unborn baby with special needs.

Everyone she meets in her medical office seems to be telling her what she should do. In what is often a lonely and frightening time, she needs the truth about her options for testing and about the future of her baby–but seldom hears it.

A frequently heard comment from such mothers is, “I felt pressured to test by my doctor.” Some women even report having prenatal blood tests done without their consent. If a test shows an increased risk for a pre-natal diagnosis, they often feel coerced by their doctors to abort. Some expectant mothers have even changed obstetricians late in pregnancy to preserve their peace of mind and good medical practice.

Defenders of this practice credit “defensive medicine” for this, since obstetricians fear so-called “wrongful birth” lawsuits where an obstetrician is sued for failure to give the mother a prenatal diagnosis and the chance to abort her baby. An Oregon couple won a $3 million suit for wrongful birth in 2012.

Women deserve the dignity of informed consent. They need to know the risks of prenatal tests and what can be done if their child is found to have a disability. At this time, the answer is often nothing more than, ‘help prepare you emotionally.’

Due to outmoded stereotypes of life with Down syndrome, too many doctors consider the birth of a child with a disability like Down syndrome a failure of the child’s patients. Mothers hear such unmedical predictions as, “Your child will never tie his shoes, read, marry, go to college or be happy.”

In truth there is a wide range of ability among those with Down syndrome. Moreover none of these predictions can be definitively tied to a prenatal diagnosis, and people with Down syndrome are breaking these barriers every day thanks to advances in inclusion and education.

Then there is the question of happiness. Some women are given the mother guilt trip in reverse; “you can’t do this to your other children.” There is the fear of raising a child with Down syndrome alone in the dire warning, “your marriage will break up.” Neither of these predictions is substantiated by research.

Dr. Brian Skotko’s 2011 study in the Journal of American Medical Genetics showed that 99% of parents who have a child with Down syndrome report being happy with them and those with Down syndrome are no less happy.

A study shows that marriages with a child with Down syndrome actually have slightly increased marriage longevity.

A 2008 study at Vanderbilt University analyzed data from the Tennessee Department of Health’s birth, hospital discharge and divorce database records from 1990 to 2002. Down syndrome actually gave families what they termed, the “Down syndrome advantage.”

Mothers are seldom told of the 1% risk of miscarriage from CVS [Chorionic Villus Sampling] and amniocentesis. Nor are not given a realistic picture of what raising a child with Down syndrome is really like. Sometimes it’s hard to believe that this is not intentional.

An abysmal ignorance exists in society about day to day life with people with Down syndrome, due to a high abortion rate of such babies diagnosed with Down syndrome before birth (between 75%-92%)

This is where an array of parents of children with Down syndrome has made an enormous difference in educating the public. Going online they are sharing their day to day lives, publishing research, and protesting negative stereotypes. These parents are making a difference in how both Down syndrome and prenatal testing are viewed.

Even the Journal of the American Medical Association is suggesting that women be given better counseling about prenatal testing. A study which showed that the number of expectant moms who chose to undergo invasive testing was halved when they had a short explanation of what testing was and what it could show them about their baby at their stage of pregnancy.

The conclusion was that the research, “adds support to the contention that women may not be receiving adequate counseling about their options. This underscores the need for clinicians to be clear that prenatal testing is not appropriate for everyone, and to present foregoing testing as a reasonable choice.”